C11orf41 (2 of 3)

Ensembl ID:
ENSDARG00000087114
Description:
chromosome 11 open reading frame 41 [Source:HGNC Symbol;Acc:24836]
Human Orthologue:
C11orf41
Human Description:
chromosome 11 open reading frame 41 [Source:HGNC Symbol;Acc:24836]
Mouse Orthologue:
D430041D05Rik
Mouse Description:
RIKEN cDNA D430041D05 gene Gene [Source:MGI Symbol;Acc:MGI:2181743]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa43124 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa43124
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123790 Essential Splice Site 149 369 3 6
Genomic Location (Zv9):
Chromosome 18 (position 29031859)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 28247543
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTAAGCATATAGTATTTGTGAATACTAATATGGAACTAATTTCTGGAATA[G/T]GCATTCAGGTTTACTCAGCTTCCTGAAATGGCTCTTGGGTCTCCTCCACC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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